Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Gadomska-Prokop, Katarzyna, Zaluska-Lesniewska, Iga, Musial, Kinga ORCID: 0000-0002-9000-7585, Zawadzki, Jan, Jobs, Katarzyna ORCID: 0000-0002-8616-2347, Porowski, Tadeusz, Rogowska-Kalisz, Anna, Jander, Anna ORCID: 0000-0003-1363-091X, Kirolos, Meritrafat, Halinski, Adam ORCID: 0000-0002-0579-8723, Krzemien, Aleksandra, Sobieszczanska-Drozdziel, Agnieszka, Zachwieja, Katarzyna, Beck, Bodo B., Sikora, Przemyslaw ORCID: 0000-0002-5698-6863 and Zaniew, Marcin (2021). Clinical profile of a Polish cohort of children and young adults with cystinuria. Ren. Fail., 43 (1). S. 62 - 71. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1525-6049

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Abstract

Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1-2% of pediatric kidney stones. In this study, we sought to identify the clinical characteristics of patients with cystinuria in a national cohort. Methods This was a retrospective study involving 30 patients from the Polish Registry of Inherited Tubulopathies. Initial data and that from a 6-month follow-up were analyzed. Mutational analysis was performed by targeted Sanger sequencing and, if applicable, MLPA analysis was used to detect large rearrangements. Results SLC7A9 mutations were detected in 15 children (50%; 10 males, 5 females), SLC3A1 mutations in 14 children (47%; 5 males, 9 females), and bigenic mutations in one male patient. The first clinical symptoms of the disease were detected at a median of 48 months of age (range 3-233 months). When individuals with different mutations were compared, there were no differences identified in gender, age of diagnosis, presence of UTI or urolithiasis, eGFR, calcium, or cystine excretion. The most common initial symptoms were urolithiasis in 26 patients (88%) and urinary tract infections in 4 patients (13%). Urological procedures were performed in 18 out of 30 (60%). Conclusions The clinical course of cystinuria is similar among patients, regardless of the type of genetic mutation. Most patients require surgery before diagnosis or soon after it. Patients require combined urological and pharmacological treatment for prevention of stone recurrence and renal function preservation.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Tkaczyk, MarcinUNSPECIFIEDorcid.org/0000-0003-1753-7560UNSPECIFIED
Gadomska-Prokop, KatarzynaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zaluska-Lesniewska, IgaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Musial, KingaUNSPECIFIEDorcid.org/0000-0002-9000-7585UNSPECIFIED
Zawadzki, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jobs, KatarzynaUNSPECIFIEDorcid.org/0000-0002-8616-2347UNSPECIFIED
Porowski, TadeuszUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rogowska-Kalisz, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jander, AnnaUNSPECIFIEDorcid.org/0000-0003-1363-091XUNSPECIFIED
Kirolos, MeritrafatUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Halinski, AdamUNSPECIFIEDorcid.org/0000-0002-0579-8723UNSPECIFIED
Krzemien, AleksandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sobieszczanska-Drozdziel, AgnieszkaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zachwieja, KatarzynaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beck, Bodo B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sikora, PrzemyslawUNSPECIFIEDorcid.org/0000-0002-5698-6863UNSPECIFIED
Zaniew, MarcinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-601713
DOI: 10.1080/0886022X.2020.1860089
Journal or Publication Title: Ren. Fail.
Volume: 43
Number: 1
Page Range: S. 62 - 71
Date: 2021
Publisher: TAYLOR & FRANCIS LTD
Place of Publication: ABINGDON
ISSN: 1525-6049
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Urology & NephrologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/60171

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